P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis

She was managed on corn starch every 4 h until 2 years of age. At age of 2, she started with long-acting maize-based starch at bedtime to improve sleep. She had recurrent bacterial infections: gingivitis, mastoiditis, and recurrent oral ulcers, each of which required hospital admission for antibiotics and GCSF. She also required admissions for management of hypoglycemia. She contracted MISC-COVID in 2020, requiring GCSF, intravenous immunoglobulin, and packed red blood cells to treat anemia. At age 7, she was started on SGLT-2 inhibitor and has been on it for almost 3 years.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102929
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis

Debra S. Regier, Emily E. Way, Nidhi Gupta, Niccole B. Piguet et al.
Genetics in Medicine Open
Neurogenetic and Muscular Disorders Research
article

P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis

Debra S. Regier, Emily E. Way, Nidhi Gupta, Niccole B. Piguet, Nina Mickle, Jennifer Russell
article en

Abstract

She was managed on corn starch every 4 h until 2 years of age. At age of 2, she started with long-acting maize-based starch at bedtime to improve sleep. She had recurrent bacterial infections: gingivitis, mastoiditis, and recurrent oral ulcers, each of which required hospital admission for antibiotics and GCSF. She also required admissions for management of hypoglycemia. She contracted MISC-COVID in 2020, requiring GCSF, intravenous immunoglobulin, and packed red blood cells to treat anemia. At age 7, she was started on SGLT-2 inhibitor and has been on it for almost 3 years.

Genetics in Medicine OpenVol. 3
Inova Health System (US), Children's National (US), Virginia Cancer Specialists (US)
Openalex Percentile: Top 93%
Neurogenetic and Muscular Disorders Research
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P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis — Debra S. Regier, Emily E. Way, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS